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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:congenital disorder of glycosylation Ii
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Accession:DOID:0080561 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: CDG Ii;   CDG1I;   CDGIi;   congenital disorder of glycosylation 1i;   congenital disorder of glycosylation type 1I;   congenital disorder of glycosylation type Ii;   congenital disorders of glycosylation type Ii
 primary_id: MESH:C535747
 alt_id: OMIM:607906;   RDO:0001036
 xref: GARD:9836;   ORDO:79326
For additional species annotation, visit the Alliance of Genome Resources.

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congenital disorder of glycosylation Ii term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I
ClinVar Annotator: match by OMIM:607906		 OMIM
ClinVar		 PMID:12684507 PMID:25741868 PMID:28492532 NCBI chr 5:63,187,466...63,192,025
Ensembl chr 5:63,187,468...63,192,025 		JBrowse link
G Ccdc115 coiled-coil domain containing 115 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:25326637 PMID:26833332 NCBI chr 9:37,774,876...37,778,839
Ensembl chr 9:37,775,311...37,779,967 		JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:18381613 PMID:18616530 PMID:19187973 PMID:21917145 PMID:24033266 PMID:26833330 NCBI chr 1:238,336,919...238,525,792
Ensembl chr 1:238,336,919...238,441,500 		JBrowse link
G Tmem199 transmembrane protein 199 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:25741868 PMID:26833330 NCBI chr10:65,775,721...65,780,293
Ensembl chr10:65,775,715...65,780,349 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:26833332 NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital disorder of glycosylation 124
        congenital disorder of glycosylation type I 70
          congenital disorder of glycosylation Ii 5
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            carbohydrate metabolic disorder 398
              congenital disorder of glycosylation 124
                congenital disorder of glycosylation type I 70
                  congenital disorder of glycosylation Ii 5
paths to the root